The paper performs whole genome sequence analysis of plasma lipid levels in 66,329 individuals, identifying new lipid-associated alleles, including rare non-coding variants.

Nature Communications · Oct 11, 2022Peer-reviewedGenetics

CSDE1 is a Post-Transcriptional Regulator of the LDL Receptor

Geoffrey A. Smith, Arun Padmanabhan, Bryan Hill-Fung Lau, Akhil Pampana, Li Li, Clara Youngna Lee, Angelo Pelonero, Tomohiro Nishino, Nandhini Sadagopan, Vivian Q. Xia, Rajan Jain, Pradeep Natarajan, Roland S. Wu, Brian L. Black, Deepak Srivastava, , John S. Chorba

A genome-wide CRISPR screen identifies CSDE1 as a key regulator of hepatic LDLR mRNA decay in vivo, making it a promising target for heart disease.

Science Translational Medicine · Sep 14, 2022Peer-reviewedGenomics

Bidirectional Mendelian randomization supports bidirectional causality between telomere length and clonal hematopoiesis of intermediate potential

Tetsushi Nakao, Alexander G. Bick, Margaret A. Taub, Seyedeh Maryam Zekavat, Md Mesbah Uddin, Abhishek Niroula, Cara L. Carty, John Lane, Michael C. Honigberg, Joshua S. Weinstock, Akhil Pampana, Christopher James Gibson, Gabriel Kenneth Griffin, Shoa L. Clarke, Romit Bhattacharya, , Brian Custer

The paper uses bidirectional Mendelian randomization to show LTL lengthening increases CHIP risk, while CHIP accelerates LTL shortening, with modest mediation between CHIP and CAD via LTL.

Science Advances · Apr 6, 2022Peer-reviewedGenetic & Genomic Medicine

Hematopoietic mosaic chromosomal alterations and risk for infection among 767,891 individuals without blood cancer

Seyedeh Maryam Zekavat, Shu‐Hong Lin, Alexander G. Bick, Aoxing Liu, Kaavya Paruchuri, Md Mesbah Uddin, Yixuan Ye, Zhaolong Yu, Xiaoxi Liu, Yoichiro Kamatani, James P. Pirruccello, Akhil Pampana, Po‐Ru Loh, Puja Kohli, Steven A. McCarroll, , Pradeep Natarajan

The paper investigates the association between age-related mosaic chromosomal alterations and infection risk in 767,891 individuals without blood cancer, finding increased infection susceptibility linked to mCAs.

medRxiv · Nov 12, 2020 · PreprintGenetic & Genomic Medicine